Protein level identifier (NP_006740):
p.Ala145_Val205del
cDNA level identifier (NM_006749):
c.(430+1_431-1)_(613+1_614-1)del
Archive identifier/Other designation:
deletion of exons 4-5
Genomic location hg(19)
not available
Gene name:
Consequence:
structural variation
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).